Canonical Allele Identifier: CA2624007538

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457277-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457279dup , CM000676.2:g.20457279dup	GRCh38
NC_000014.8:g.20925438dup , CM000676.1:g.20925438dup	GRCh37
NC_000014.7:g.19995278dup	NCBI36
NG_008718.1:g.7149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.728dup MANE Select	ENSP00000216714.3:p.Leu243PhefsTer9
ENST00000216714.7:c.728dup	ENSP00000216714.3:p.Leu243PhefsTer9
ENST00000398030.8:c.728dup	ENSP00000381111.4:p.Leu243PhefsTer9
ENST00000553555.5:n.1148dup
ENST00000553681.5:c.728dup	ENSP00000451327.1:p.Leu243PhefsTer9
ENST00000555414.5:c.728dup	ENSP00000451979.1:p.Leu243PhefsTer9
ENST00000555839.5:c.641dup	ENSP00000452460.1:p.Leu214PhefsTer9
ENST00000557054.1:c.*139dup	ENSP00000452212.2:n.*139dup
ENST00000557159.5:n.1344dup
ENST00000557365.1:n.808dup
NM_001244249.1:c.728dup	NP_001231178.1:p.Leu243PhefsTer9
NM_001641.3:c.728dup	NP_001632.2:p.Leu243PhefsTer9
NM_080648.2:c.728dup	NP_542379.1:p.Leu243PhefsTer9
NM_080649.2:c.728dup	NP_542380.1:p.Leu243PhefsTer9
XM_005267581.3:c.728dup	XP_005267638.1:p.Leu243PhefsTer9
XM_005267582.3:c.677dup	XP_005267639.1:p.Leu226PhefsTer9
NM_001641.4:c.728dup MANE Select	NP_001632.2:p.Leu243PhefsTer9
NM_001244249.2:c.728dup	NP_001231178.1:p.Leu243PhefsTer9
NM_080648.3:c.728dup	NP_542379.1:p.Leu243PhefsTer9
NM_080649.3:c.728dup	NP_542380.1:p.Leu243PhefsTer9